{
    "disease_id": "DOID:0111235",
    "recommended_name": {
        "id": "DOID:0111235",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111235",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A12",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111235",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111235",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease POMK-related",
            "description": ""
        },
        {
            "id": "DOID:0111235",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111235",
            "name": "MDDGA12",
            "description": ""
        },
        {
            "id": "DOID:0111235",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111235",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",
            "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene."
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; MDDGA12",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "POMK muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "MDDGA12",
            "description": ""
        },
        {
            "id": "MONDO:0014101",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014101",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related",
            "description": ""
        },
        {
            "id": "MIM:615249",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615249",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12"
        }
    ]
}